sleep profile of patients with septo-optic dysplasia

Conditions: Septo-Optic Dysplasia; Agenesis of Corpus Callosum; Blindness

Summary: the aim of this study is to evaluate sleep of patients with septo-optic dysplasia compared to patients with an isolated disorder of peripheral visual system and patients with corpus callosum agenesis since both visus defict and agenesis of corpus callosum might be present sod but associated to other features / structural and functional anomalies. included patients and their caregivers will be asked to compile standardize sleep questionnaires and a sleep screening through an interview will be scheduled. patients will be asked to wear an actigraph on their non-dominant hand wrist for 7 days.

the primary objective of this study is to evaluate sleep of patients with septo-optic dysplasia compared to patients with an isolated disorder of peripheral visual system and patients with corpus callosum agenesis since both visus defict and agenesis of corpus callosum might be present sod but associated to other features / structural and functional anomalies. the secondary aims of this study are the following: 1. identify which factors such as clinical and neuroanatomical features including sensory experience influence sleep outcome and how 2. describe melatonin profile of patients with sod 3. describe sleep eeg of patients with sod three groups of patients will be included: * group a: patients with septo-optic dysplasia * group b: patients with disorder of peripheral visual system * group c: patients with corpus callosum agenesis this is an observational monocentric study. the procedures in the study that are not included in current clinical practice in the follow-up pathway of the included patients are the following: * administration of standardized sleep questionnaires (pittsburgh sleep quality index: self-completed questionnaire assessing sleep quality over a 1-month time interval;epworth sleepiness scale: self-completed questionnaire assessing daytime sleepiness; children sleep habits questionnaire) * 7 days actigraph recording through wearing of actiwatch spectrum plus at home * performance of sleep eeg * performance of blood and salivary sampling for melatonin dosing (for each subject, one 4 ml blood and one 2 ml saliva samples will be collected at each assessment)

Eligibility criteria:
inclusion criteria group a: * diagnosis of sod or sod plus syndrome with or without a defined genetic diagnosis * age 3-18 years * availability of at least 2 serial sleep eegs performed during clinical follow-up * stable drug therapy in the last three months inclusion criteria group b: * diagnosis of congenital or early acquired isolated peripheral visual deficit with or without a known genetic diagnosis (e.g., congenital cataract, inherited retinal dystrophies, isolated eye maldevelopment). * age 3-18 years * grating or visual acuity \< 3/10 * availability of serial sleep eegs performed during clinical follow-up * stable drug therapy in the last three months inclusion criteria group c * isolated corpus callosum agenesis at brain mri * age 3-18 years * availability of at least 2 serial sleep eegs performed during clinical follow-up * stable drug therapy in the last three months exclusion criteria group a: * absence of informed consent * severe intellectual disability and/or severe motor impairment * melatonin assumption exclusion criteria group b: * absence of informed consent * cns involvement ( malformations/ lesions) * severe intellectual disability and/or severe motor impairment * melatonin assumption exclusion criteria group c * absence of informed consent * severe intellectual disability and/or severe motor impairment * melatonin assumption

Keywords: sleep actigraphy brain malformation visual deficit sod genesis of corpus callous pediatric patients